产前超声诊断胎儿持续性右脐静脉及其合并畸形的临床价值

目的 探讨产前超声诊断胎儿持续性右脐静脉及其合并结构畸形的临床价值.方法 回顾性分析2007年4月至2011年8月在复旦大学附属妇产科医院产前检查的38 827例孕妇中,产前超声检出的109例持续性右脐静脉胎儿及其合并结构畸形情况.结果 胎儿持续性右脐静脉的发生率为0.28％(109/38 827),其中单胎100例,双胎9例.109例产前超声诊断的持续性右脐静脉胎儿中,未合并结构畸形者95例(单胎90例,双胎5例),孕妇均正常妊娠分娩,新生儿预后良好,其中有4例行染色体检查,结果均正常.合并结构畸形者14例,发生率为12.8％(14/109),其中合并心血管系统结构畸形者10例,占71.4％(10/14).胎儿合并的结构畸形大多比较严重,例如心内膜垫缺失、右心室双流出道、单心房和单心室等,9例(64.3％,9/14)引产终止妊娠.14例合并结构畸形者仅有1例行胎儿染色体检查,结果正常.结论 产前超声检查发现胎儿持续性右脐静脉后,应仔细检查胎儿各系统结构,了解有无合并结构畸形,尤其是心血管系统.     

Prenatal diagnosis of umbilical arteriovenous malformation

Umbilical arteriovenous malformation (AVM) is a rare congenital malformation. We report a case of umbilical AVM that was prenatally diagnosed by further color Doppler ultrasonography because of fetal cardiomegaly. At 35 weeks gestation, a male newborn was delivered by emergent cesarean section because of rapid progress of cardiomegaly and breech presentation. Three-dimensional reconstructed computed tomography after birth demonstrated the shunt was spontaneously closed. This is the first case report of umbilical AVM, which was prenatally diagnosed, and the boy was successfully delivered, suggesting that, when fetal cardiomegaly is identified, umbilical AVM must be taken into consideration.     

Prenatal sonographic diagnosis of single umbilical artery: Emphasis on the absent side and its relation to associated anomalies

ObjectiveTo determine the absent side of a single umbilical artery (SUA) and to evaluate whether associated anomalies are related to the side of the missing artery in a Taiwanese population.Materials and methodsWe retrospectively studied SUA fetuses from our computer database of fetal ultrasound in a tertiary medical center in Southern Taiwan. All cases were diagnosed as SUA prenatally using conventional scanners of two- and three-dimensional (2D and 3D, respectively) ultrasound, as well as color, power, and high-definition Doppler. The absent side of UA and associated anomalies were analyzed.ResultsFrom September 2006 to November 2011, 31 fetuses with SUA were diagnosed prenatally by ultrasound and all were enrolled for this series. The incidence was estimated to be 1:556 (0.18% = 31/17,086). The mean maternal age was 29.2 years (range, 15–36 years) and the mean fetal age was 30.0 weeks of gestation (range 18–36 weeks). Notably, the left-absent UA was detected in 16/31 (52%) fetuses, compared with the right-absent UA in 15/31 (48%) cases. In addition, congenital anomalies were noted prenatally in 2/16 (13%) fetuses with left-absent UA and in 3/15 (20%) fetuses with right-absent UA.ConclusionIn SUA fetuses, the absence of UA appears to occur equally at each side. Moreover, this study showed no significant difference between either side of missing UA and associated anomalies after statistical examination.     

Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings

Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20-22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism.     

Omphalocele and umbilical cord cyst. Prenatal diagnosis

We present a case of intrauterine fetal death at 32 week's gestation with omphalocele, umbilical cord allantoic cyst and polyhydramnios. Ultrasound diagnosis of anomalies was performed at 23 weeks of gestation. Fetal karyotype was normal: 46 XX. This association has been found to have a high rate of chromosomal abnormalities, especially trisomy 18. It's difficult to explain the reason why intrauterine fetal death has happened; one possible hypothesis is that the cord cyst, compressing umbilical vessels, have caused intrauterine vascular compromise of blood flow.     

Prenatal diagnosis of absent right and persistent left superior vena cava

OBJECTIVE: Persistence of left superior vena cava (LSVC) is a known variant of the systemic venous return. In the setting of an otherwise structurally normal heart, absence of the right superior vena cava (RSVC) but persistence of the LSVC is rare. METHODS: We describe the prenatal findings of a fetus with absent right and persistent LSVC. RESULTS: A dichorionic diamniotic twin pregnancy was referred to our centre with cardiac disproportion. Twin A had disproportion at four-chamber level, an absent right but persistent LSVC draining to an enlarged coronary sinus and a hypoplastic transverse aortic arch (<2 mm). Postnatal echocardiography of the asymptomatic baby confirmed the prenatal diagnosis, and serial echocardiograms demonstrated general hypoplasia of the aortic arch but no discrete coarctation (CoA). No intervention was required and the baby is thriving aged 10 months. CONCLUSION: Persistence of LSVC is a known variant of the systemic venous return. In the setting of an otherwise structurally normal heart, absence of the right but persistence of LSVC is rare.     

Prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve

Multiple indications for fetal echocardiography have been proposed that includes polyhydramnios. In this report, the prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve and absent ductus arteriosus was made in a patient presenting with polyhydramnios. Tracheobronchial and esophageal compression secondary to gross dilation of the pulmonary artery is considered the etiology of the polyhydramnios, and in the case of this structural defect is an indicator of poor prognosis.     

Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis

The prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome, utilizing ultrasound and cordocentesis, is described. To our knowledge, this represents the first prenatal diagnosis of this condition in an index case. The diagnostic evaluation of a fetus with upper extremity limb reduction defects is discussed.     

Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies

Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow velocity in a ductus venosus temporarily showing reversed end-diastolic flow in a growth-retarded fetus with congenital anomalies. This normalization was accompanied by an improvement of the CTG, a loss of umbilical vein pulsations, a reappearance of umbilical diastolic flow and a progressive return of cerebral and venous blood flow into the 'normal' range. Improvement of fetal condition may be the explanation for our observation.     

Prenatal diagnosis of vein of Galen aneurysmal malformations

Vein of Galen aneurysmal malformations are rarely seen intracranial malformations. They represent less than 1% of the cerebral arteriovenous malformations. Prenatal diagnosis of an arteriovenous fistula malformation may be achieved by real-time and Doppler sonography with color flow imaging, by identifying dilated veins and arteriovenous shunts with turbulent flow. In addition, an elevated cardiac output may be observed and correlated with the magnitude of the cerebral arteriovenous shunt. The high incidence of cardiomegaly in neonates with arteriovenous malformations also suggests that high-output cardiac failure is already present in a significant number of cases during the 3rd trimester, and, therefore, treatment in utero may need to be considered to improve the hemodynamic status. In our case, all the above cardiovascular features were present during prenatal ultrasonography. The information on outcome compiled from the literature suggests that when an arteriovenous malformation is large enough to be detected prenatally, as in our case, it is likely to lead to cardiac failure either during the antenatal period or soon after birth. In this paper, we present the management of a case of 3rd-trimester diagnosis of a vein of Galen aneurysm associated with cardiac decompensation.     

Prenatal diagnosis of a vein of galen aneurysm

We present the prenatal diagnosis of a vein of Galen aneurysm in a 34-week fetus. The aneurysm was 8 x 3.5 x 3 cm in dimension, and located posterior to the third ventricle. Color flow examination revealed a turbulent flow in the lesion. There was significant cardiomegaly. Prenatal ultra-fast magnetic resonance imaging was used to view the malformation in three dimensions. Although the pregnancy continued uneventfully, the fetus died of congestive heart failure on the 3rd day postpartum. The value of antenatal sonography and magnetic resonance imaging in the prediction of prognosis is discussed.     

Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery

A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. Cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR syndrome.     

Prenatal diagnosis of umbilical cord cyst: Clinical significance and prognosis

Objective

Clarify the prognosis of the prenatal ultrasound diagnosis of umbilical cord cysts at any gestation trimester and to assess the ultrasound findings and chromosomal alterations associated to this entity.

Prenatal ultrasonographic diagnosis of congenital umbilical hernia and associated patent omphalomesenteric duct

We present an unusual case in whom a small congenital hernia of the umbilical cord and associated patent omphalomesenteric duct were diagnosed at midtrimester ultrasonography. The diagnosis was confirmed following delivery, and neonatal corrective surgery was performed. We compare prenatal ultrasound findings of umbilical hernia and associated persistent omphalomesenteric duct with those of omphalocele.     

Fetal intraabdominal umbilical vein varix: antenatal diagnosis and management

Objective: Fetal intraabdominal vein varix (FIUVV) is a sonographic finding with unknown prevalence. We aimed to point out this particular abnormality and review possible associations and complications which may arise.

Method: We performed an unrestricted literature search via PubMed and included all cases diagnosed with FIUVV.

Case presentation: A 24-year-old, gravida 1 para 0 woman was referred to our clinic with possible diagnosis of FIUVV. We confirmed the diagnosis and detailed sonogram was normal. Beyond the gestational age of 32 weeks, intruterine growth restriction became evident. Close fetal surveillance was performed. We did not detect any thrombus formation within the varix or signs of cardiac decompansation during these visits. Delivery was planned after completion of 37 weeks. A healthy baby weighing 2100?g was delivered and discharged without any complications.

Conclusion: It is generally accepted that fetal anatomic survey is necessary after detection of FIUVV. Karyotyping could be performed for those cases associated with additional structural malformations. Close surveillance of fetal well being and growth is important. Possibility of thrombus formation within the varix should be kept in mind.     

Prenatal diagnosis of tetralogy of fallot with absent pulmonary valve using advanced dynamic flow

Tetralogy of Fallot with pulmonary valve absence can cause severe respiratory distress immediately after birth; therefore, a prenatal diagnosis is important. In this paper, we report a case using advanced dynamic flow to enhance its diagnosis.     

Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma

Klippel-Trenaunay-Weber syndrome (KTW), also known as angio-osteohypertrophy syndrome, is a complex developmental disorder characterized by asymmetric hemi-hypertrophy of limbs and trunk due to bony and soft tissue overgrowth that may extend across the midline, varicose veins, and cutaneous hemangiomata. This rare syndrome has been previously described in the prenatal period by ultrasonography, and in literature, there are quite different presentation of cases. We describe a case suggested as a KTW syndrome by prenatal ultrasonography. The sonographic appearance of an unilateral leg hypertrophy associated with irregular echolucent cystic areas was consistent with KTW syndrome. A spheric, weak-echogenic mass without any active blood flow located in the umbilical cord revealed by color Doppler ultrasonography was an unexpected finding. The postpartum examination confirmed the prenatal diagnosis.     

Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies

OBJECTIVES: We present an observational study of 12 cases of anomalies of the umbilical and portal vein systems associated with absence of the ductus venosus (DV) diagnosed over the past 5 years. The hemodynamic implications of each pattern of umbilico-portal system anomalies associated with absence of the DV have been investigated, as well as the frequency and types of associated anomalies and their embryological origin. METHODS: In all cases ultrasound, color Doppler, and cytogenetic investigations were performed. RESULTS: Four main patterns of abnormal venous circulation were documented: (1). the umbilical vein (UV) bypasses the liver and drains into the right atrium directly or through a dilated coronary sinus (three cases); (2). the UV bypasses the liver, with an infrahepatic or suprahepatic connection directly to the inferior vena cava (IVC) (two cases); (3). the UV bypasses the liver and drains directly into the iliac or renal veins (four cases); and (4). the UV drains directly into the portal veins (three cases). Among seven cases with other associated anomalies (58%), there were three cases of Turner's and Noonan's syndromes. Two fetuses and two neonates died and there were two terminations of pregnancy (TOP). CONCLUSIONS: In utero diagnosis of ultrasound patterns associated with DV anomalies is feasible. Fetal karyotyping should be considered, serial ultrasound examinations recommended and, in the presence of heart failure, delivery can be anticipated.